SNP Links for Gene (Select 105378493) - SNP

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Select item 14915102401.

rs1491510240 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:114027673 (GRCh38)
10:115787432 (GRCh37)
Canonical SPDI:: NC_000010.11:114027672:AT:
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000054/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.114027673_114027674del, NC_000010.10:g.115787432_115787433del

Select item 14897170112.

rs1489717011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:114031505 (GRCh38)
10:115791264 (GRCh37)
Canonical SPDI:: NC_000010.11:114031504:T:C
Gene:: LOC105378493 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000010.11:g.114031505T>C, NC_000010.10:g.115791264T>C

Select item 14892540233.

rs1489254023 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 10:114030739 (GRCh38)
10:115790498 (GRCh37)
Canonical SPDI:: NC_000010.11:114030736:AACAA:AA
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00118/14 (ALFA)
-=0.000179/20 (GnomAD)
-=0.001855/31 (TOMMO)
HGVS:: NC_000010.11:g.114030739_114030741del, NC_000010.10:g.115790498_115790500del

Select item 14891620144.

rs1489162014 has merged into rs568408884 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAATA>-,ATA,ATAATAATA,ATAATAATAATA [Show Flanks]
Chromosome:: 10:114030554 (GRCh38)
10:115790313 (GRCh37)
Canonical SPDI:: NC_000010.11:114030540:AATAATAATAATAATAATA:AATAATAATAATA,NC_000010.11:114030540:AATAATAATAATAATAATA:AATAATAATAATAATA,NC_000010.11:114030540:AATAATAATAATAATAATA:AATAATAATAATAATAATAATA,NC_000010.11:114030540:AATAATAATAATAATAATA:AATAATAATAATAATAATAATAATA
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAATAATAATA=0./0 (ALFA)
-=0.00164/3 (Korea1K)
AAT=0.00319/16 (1000Genomes)
HGVS:: NC_000010.11:g.114030542ATA[4], NC_000010.11:g.114030542ATA[5], NC_000010.11:g.114030542ATA[7], NC_000010.11:g.114030542ATA[8], NC_000010.10:g.115790301ATA[4], NC_000010.10:g.115790301ATA[5], NC_000010.10:g.115790301ATA[7], NC_000010.10:g.115790301ATA[8]

Select item 14889027945.

rs1488902794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:114030794 (GRCh38)
10:115790553 (GRCh37)
Canonical SPDI:: NC_000010.11:114030793:G:C
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.114030794G>C, NC_000010.10:g.115790553G>C

Select item 14882102446.

rs1488210244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:114031827 (GRCh38)
10:115791586 (GRCh37)
Canonical SPDI:: NC_000010.11:114031826:A:G
Gene:: LOC105378493 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.114031827A>G, NC_000010.10:g.115791586A>G

Select item 14868358017.

rs1486835801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:114029524 (GRCh38)
10:115789283 (GRCh37)
Canonical SPDI:: NC_000010.11:114029523:A:T
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.114029524A>T, NC_000010.10:g.115789283A>T

Select item 14859548048.

rs1485954804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:114026832 (GRCh38)
10:115786591 (GRCh37)
Canonical SPDI:: NC_000010.11:114026831:C:G
Gene:: LOC105378493 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.114026832C>G, NC_000010.10:g.115786591C>G

Select item 14859031249.

rs1485903124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:114028921 (GRCh38)
10:115788680 (GRCh37)
Canonical SPDI:: NC_000010.11:114028920:A:G
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.114028921A>G, NC_000010.10:g.115788680A>G

Select item 148583392310.

rs1485833923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:114025766 (GRCh38)
10:115785525 (GRCh37)
Canonical SPDI:: NC_000010.11:114025765:C:T
Gene:: LOC105378493 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.114025766C>T, NC_000010.10:g.115785525C>T

Select item 148578375011.

rs1485783750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:114028546 (GRCh38)
10:115788305 (GRCh37)
Canonical SPDI:: NC_000010.11:114028545:C:G,NC_000010.11:114028545:C:T
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.114028546C>G, NC_000010.11:g.114028546C>T, NC_000010.10:g.115788305C>G, NC_000010.10:g.115788305C>T

Select item 148491888812.

rs1484918888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 10:114027921 (GRCh38)
10:115787680 (GRCh37)
Canonical SPDI:: NC_000010.11:114027920:A:C,NC_000010.11:114027920:A:G
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.114027921A>C, NC_000010.11:g.114027921A>G, NC_000010.10:g.115787680A>C, NC_000010.10:g.115787680A>G

Select item 148467955213.

rs1484679552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:114030106 (GRCh38)
10:115789865 (GRCh37)
Canonical SPDI:: NC_000010.11:114030105:G:A
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.114030106G>A, NC_000010.10:g.115789865G>A

Select item 148464567414.

rs1484645674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:114030625 (GRCh38)
10:115790384 (GRCh37)
Canonical SPDI:: NC_000010.11:114030624:T:C
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.114030625T>C, NC_000010.10:g.115790384T>C

Select item 148460820215.

rs1484608202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:114029342 (GRCh38)
10:115789101 (GRCh37)
Canonical SPDI:: NC_000010.11:114029341:C:A
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.114029342C>A, NC_000010.10:g.115789101C>A

Select item 148455385516.

rs1484553855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:114030905 (GRCh38)
10:115790664 (GRCh37)
Canonical SPDI:: NC_000010.11:114030904:G:A
Gene:: LOC105378493 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.114030905G>A, NC_000010.10:g.115790664G>A, XR_946333.3:n.469G>A, XR_946333.2:n.469G>A, XR_946333.1:n.469G>A

Select item 148333079017.

rs1483330790 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:114027578 (GRCh38)
10:115787337 (GRCh37)
Canonical SPDI:: NC_000010.11:114027576:AAA:A
Gene:: LOC105378493 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.114027578_114027579del, NC_000010.10:g.115787337_115787338del, XR_946333.3:n.226_227del, XR_946333.2:n.226_227del, XR_946333.1:n.226_227del

Select item 148306001818.

rs1483060018 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 10:114029327 (GRCh38)
10:115789086 (GRCh37)
Canonical SPDI:: NC_000010.11:114029326:T:A,NC_000010.11:114029326:T:C
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.114029327T>A, NC_000010.11:g.114029327T>C, NC_000010.10:g.115789086T>A, NC_000010.10:g.115789086T>C

Select item 148293797119.

rs1482937971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:114028623 (GRCh38)
10:115788382 (GRCh37)
Canonical SPDI:: NC_000010.11:114028622:A:G
Gene:: LOC105378493 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.114028623A>G, NC_000010.10:g.115788382A>G

Select item 148277105120.

rs1482771051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:114025547 (GRCh38)
10:115785306 (GRCh37)
Canonical SPDI:: NC_000010.11:114025546:T:C
Gene:: LOC105378493 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.114025547T>C, NC_000010.10:g.115785306T>C

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